The cost of sequencing the entire human genome has fallen low enough that the main concerns about the clinical usefulness of whole genome information are now about the difficulty of interpreting the mass of information. Existing methods, e.g., involving whole-exome or whole-genome sequencing, report genome information as raw lists of genes or other chromosomal regions found to be abnormal and report the diseases associated with abnormalities in a large number of genes. However, current approaches to utilizing such raw genomic data are of limited utility to a clinician seeking to make a diagnosis. There is a pressing need in the art to develop an accurate, efficient, and quantitative computer-based diagnostic decision support tool that receives genome data from a patient and uses these data to compute the probability of various diseases and the pertinence of various gene variants, thereby providing diagnostic decision support to the clinician.